Journal
HUMAN GENETICS
Volume 132, Issue 4, Pages 443-450Publisher
SPRINGER
DOI: 10.1007/s00439-012-1261-4
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Funding
- Netherlands Organization for Scientific Research (NWO)
- Prinses Beatrix Fonds
- VSB Fonds
- Research Institute for Diseases in the Elderly
- Netherlands Genomics Initiative
- National Institute for Mental Health (NIMH)
- National Institute for Drug Abuse (NIDA)
- European Commission
- Radboud University Nijmegen Medical Center
- Erasmus Medical Center Rotterdam
- University Medical Center Utrecht in The Netherlands
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Genomic copy number variations (CNVs) and increased parental age are both associated with the risk to develop a variety of clinical neuropsychiatric disorders such as autism, schizophrenia and bipolar disorder. At the same time, it has been shown that the rate of transmitted de novo single nucleotide mutations is increased with paternal age. To address whether paternal age also affects the burden of structural genomic deletions and duplications, we examined various types of CNV burden in a large population sample from the Netherlands. Healthy participants with parental age information (n = 6,773) were collected at different University Medical Centers. CNVs were called with the PennCNV algorithm using Illumina genome-wide SNP array data. We observed no evidence in support of a paternal age effect on CNV load in the offspring. Our results were negative for global measures as well as several proxies for de novo CNV events in this unique sample. While recent studies suggest de novo single nucleotide mutation rate to be dominated by the age of the father at conception, our results strongly suggest that at the level of global CNV burden there is no influence of increased paternal age. While it remains possible that local genomic effects may exist for specific phenotypes, this study indicates that global CNV burden and increased father's age may be independent disease risk factors.
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